Previous HGNC Symbols for NEFM Gene

Previous GeneCards Identifiers for NEFM Gene

Summaries for NEFM Gene

Entrez Gene Summary for NEFM Gene

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

Post-translational modifications for NEFM Gene

Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.

There are a number of repeats of the tripeptide K-S-P, NFM is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFM results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.

Identification of the major multiphosphorylation site in mammalian neurofilaments.(PMID: 2450354)Lee VM … Lazzarini RA(Proceedings of the National Academy of Sciences of the United States of America 1988)3460